Article
Elevated APOBEC mutational signatures implicate chronic injury in etiology of an aggressive head-and-neck squamous cell carcinoma: a case report.
Journal of medical case reports - 30 Apr 2021
Patel Jena, den Breems Nicoline Y, Tuluc Madalina, Johnson Jennifer, Curry Joseph M, South Andrew P, Cho Raymond J
Abstract excerpt
BACKGROUND: Aggressive squamous cell carcinomas (SCCs) present frequently in the context of chronic skin injury occurring in patients with the congenital blistering disease recessive dystrophic epidermolysis bullosa. Recently, these cancers were shown to harbor mutation signatures associated with endogenous deaminases of the active polynucleotide cytosine deaminase family, collectively termed APOBEC, and...
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